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Duplication 2q31gter due to a maternal (2;14) translocation

Cleide L. Borovik^I; Dedo Brunoni^I; Joćo Guidugli-Neto^II

^IUnidade de Citogenética, Serviço de Laboratório Clínico
^IIServiço de Anatomia Patológica, Hospital dos Servidores Públicos do Estado de São Paulo, Rua Pedro de Toledo, 1800, 10°. andar, 04039 São Paulo, SP, Brasil. Send correspondence to C.L.B.

ABSTRACT

A male newborn with multiple congenital malformations, who died during the neonatal period, is described. The malformations were: microcephaly, prominent forehead, ocular hypertelorism, flattened bridge and short broad nose, anteverted nares, long philtrum, retrognathia, dysmorphic ears, penoscrotal hypospadias, and congenital heart disease. At necropsy, ependymal cysts were detected. The cytogenetic studies showed a 2q3 lqter trisomy in the patient originating from a (2;14) translocation in his mother. To our knowledge, ependymal cysts have not been described previously in association with chromosome anomalies.

Keywords: duplication; 2q31gter; maternal; translocation.

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